Rubinstein-Taybi Syndrome
"Rubinstein-Taybi Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower lip, agenesis of corpus callosum, large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea, and megacolon. The disease has an autosomal dominant pattern of inheritance and is associated with deletions of the short arm of chromosome 16 (16p13.3).
| Descriptor ID |
D012415
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| MeSH Number(s) |
C05.116.099.370.797 C05.660.207.850 C10.597.606.643.700 C16.131.077.804 C16.131.260.790 C16.131.621.207.850 C16.320.180.790
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| Concept/Terms |
Rubinstein-Taybi Syndrome- Rubinstein-Taybi Syndrome
- Rubinstein Taybi Syndrome
- Syndrome, Rubinstein-Taybi
- Rubinstein Syndrome
- Syndrome, Rubinstein
- Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation
- Broad Thumb-Hallux Syndrome
- Broad Thumb Hallux Syndrome
- Broad Thumb-Hallux Syndromes
- Syndrome, Broad Thumb-Hallux
- Syndromes, Broad Thumb-Hallux
|
Below are MeSH descriptors whose meaning is more general than "Rubinstein-Taybi Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Rubinstein-Taybi Syndrome".
This graph shows the total number of publications written about "Rubinstein-Taybi Syndrome" by people in this website by year, and whether "Rubinstein-Taybi Syndrome" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2005 | 1 | 0 | 1 |
| 2009 | 1 | 0 | 1 |
| 2010 | 1 | 0 | 1 |
| 2012 | 0 | 1 | 1 |
| 2019 | 0 | 1 | 1 |
| 2020 | 1 | 0 | 1 |
| 2022 | 2 | 0 | 2 |
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Below are the most recent publications written about "Rubinstein-Taybi Syndrome" by people in Profiles.
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High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations. Eur J Hum Genet. 2023 03; 31(3):296-303.
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Near-Haploid B-Cell Acute Lymphoblastic Leukemia in a Patient with Rubinstein-Taybi Syndrome. Pediatr Hematol Oncol. 2022 Nov; 39(8):747-754.
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Rubinstein-Taybi syndrome in diverse populations. Am J Med Genet A. 2020 12; 182(12):2939-2950.
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Genotype-phenotype specificity in Menke-Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP. Am J Med Genet A. 2019 06; 179(6):1058-1062.
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Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. Am J Hum Genet. 2012 Feb 10; 90(2):282-9.
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Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH. Eur J Hum Genet. 2011 Jan; 19(1):43-9.
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Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome. J Med Genet. 2010 Mar; 47(3):155-61.
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Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. Am J Hum Genet. 2005 Apr; 76(4):572-80.